[MIM 614 482]

(Congenital cataract syndrome-severe deafness-developmental delay, Acetyl-CoA transporter deficiency)

Extremely rare. Autosomal recessive transmission of a mutation of the SLC33A1 gene (3q25.31), coding for the acetyl coenzyme A transporter 1. Congenital anomaly of copper metabolism (deficiency of coeruloplasmin, a protein that transports Cu into the bloodstream), characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay and severe, generalized muscle hypotonia. Nystagmus and seizures have also been reported.  Death before 6 years of age.

Facial dysmorphism: micrognathia, high-arched or cleft palate, narrow palpebral fissures, small, low-set ears

MRI: cerebellar and cerebral hypoplasia, hypomyelination, enlarged subarachnoid spaces.

Biology: low blood levels of Cu and coeruloplasmin.

Anesthetic implications:

severe mental retardation, deafness, hypotonia, risk of difficult intubation.

References :

-        Bendixen Thorup M, Hvid Danielsen E, Vilstrup H, Ott P and Damgaard Sandahl T. 
Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.
Front Neurol 2022 ; 13:957794. doi: 10.3389/fneur.2022.957794

-        Siki K,  Peters TMA,  Engelke U, Petkovic Ramadza D, Zigman T et al.
Huppke-Brendel syndrome: novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.
JIMD Reports. 2024;1‐10. doi:10.1002/jmd2.12439

Updated: October 2024